Canonical Allele Identifier: CA466756060

Gene: ALAD

Linked Data

• ClinVar Variation Id: 721541
• ClinVar RCV Id: RCV000895063
• dbSNP Id: rs1588082023
• MyVariant Identifiers: chr9:g.116151327A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389047A>G , CM000671.2:g.113389047A>G	GRCh38
NC_000009.11:g.116151327A>G , CM000671.1:g.116151327A>G	GRCh37
NC_000009.10:g.115191148A>G	NCBI36
NG_008716.1:g.17292T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.861T>C MANE Select	ENSP00000386284.3:p.His287=
ENST00000409155.7:c.861T>C	ENSP00000386284.3:p.His287=
ENST00000482847.5:n.1134T>C
NM_000031.5:c.861T>C	NP_000022.3:p.His287=
XM_005251799.1:c.948T>C	XP_005251856.1:p.His316=
XM_011518363.1:c.987T>C	XP_011516665.1:p.His329=
XM_011518364.1:c.888T>C	XP_011516666.1:p.His296=
NM_001003945.2:c.948T>C	NP_001003945.1:p.His316=
NM_001317745.1:c.837T>C	NP_001304674.1:p.His279=
XM_011518364.2:c.888T>C	XP_011516666.1:p.His296=
XM_024447449.1:c.948T>C	XP_024303217.1:p.His316=
NM_000031.6:c.861T>C MANE Select	NP_000022.3:p.His287=
NM_001003945.3:c.948T>C	NP_001003945.1:p.His316=
NM_001317745.2:c.837T>C	NP_001304674.1:p.His279=